SOHO 2026 | Emerging technologies for molecular monitoring and mutation detection in CML

Well, during my presentation here at SOHO 2026, I on purpose decided to talk about those new technologies that are closest to prime time. So I was talking about digital PCR and the next generation sequencing. As far as digital PCR is concerned as you know it’s an evolution of real-time quantitative PCR with several advantages and I think that the main applications that are really ready for prime time is the use of digital PCR for quantitation of atypical transcripts that gives finally the chance to patients with atypical transcript to have a quantitative monitoring and to be offered TKI much more frequently than could happen before or to be also included in clinical trials with new drugs because most of these patients in the past have been excluded because of the impossibility to quantitate their transcript levels. Digital PCR is also interesting for mutation testing. It is a mutation-specific method, so you should choose a specific mutation of interest. But, for example, for highly clinically relevant mutations like T315I, its high sensitivity and specificity, I think, can be an added value. And of course, NGS. I’ve been discussing about NGS for BCR::ABL kinase domain mutation testing, also the novel approaches with high sensitivity and error correction methods, and also I’ve been discussing about myeloid panels. They are not good for BCR::ABL kinase domain mutation testing, but they are interesting for ASXL1. That is becoming more and more interesting as a negative prognostic factor. Its actionability is not yet so well established, but I think in a couple of years we will have a clear idea of how to deal with these ASXL1 alone positive patients.

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